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Get Free AccessIn this exploratory study of 12 volunteer adults, the use of WGS was associated with incomplete coverage of inherited disease genes, low reproducibility of detection of genetic variation with the highest potential clinical effects, and uncertainty about clinically reportable findings. In certain cases, WGS will identify clinically actionable genetic variants warranting early medical intervention. These issues should be considered when determining the role of WGS in clinical medicine.
Frederick E. Dewey, Megan E. Grove, Cuiping Pan, Benjamin A. Goldstein, Jonathan A. Bernstein, Hassan Chaı̈b, Jason D. Merker, Rachel L. Goldfeder, Gregory M. Enns, Sean P. David, Neda Pakdaman, Kelly E. Ormond, Colleen Caleshu, Kerry Kingham, Teri E. Klein, Michelle Whirl‐Carrillo, Kenneth Sakamoto, Matthew T. Wheeler, Atul J. Butte, James M. Ford, Linda M. Boxer, John P A Ioannidis, Alan C. Yeung, Russ B. Altman, Themistocles L. Assimes, M Snyder, Euan A. Ashley, Thomas Quertermous (2014). Clinical Interpretation and Implications of Whole-Genome Sequencing. , 311(10), DOI: https://doi.org/10.1001/jama.2014.1717.
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Type
Article
Year
2014
Authors
28
Datasets
0
Total Files
0
Language
en
DOI
https://doi.org/10.1001/jama.2014.1717
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